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Infantile-Onset Canavan Disease: A Rare Type of Leukodystrophy

Year: 2026

Type: article

Abstract: Canavan disease is a rare form of leucodystrophy due to the deficiency of aspartoacylase enzyme, characertized by global developmental delay, spastic quadriparesis and macrocephaly. The neuroimagimg hallmark is the involvement of periventricular and subcortical white matter and tall N-acetyl aspartic acid peak.

Source: Journal of Pediatric Neurosciences

DOI: 10.4103/jpn.jpn_72_26

Authors: Leema Pauline Cornelius, K. Jered Livingston, E. Neeraj

Institution: Madras Medical College

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7171837007

FWCI:

Cites: 10

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